title: The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa.
authors.forename: B
authors.initials: B
authors.lastname: Drera
authors.forename: M
authors.initials: M
authors.lastname: Ritelli
authors.forename: G
authors.initials: G
authors.lastname: Tadini
authors.forename: N
authors.initials: N
authors.lastname: Zoppi
authors.forename: M
authors.initials: M
authors.lastname: Venturini
authors.forename: P G
authors.initials: PG
authors.lastname: Calzavara-Pinton
authors.forename: S
authors.initials: S
authors.lastname: Barlati
authors.forename: M
authors.initials: M
authors.lastname: Colombi
mesh_terms: D000328:Adult; D001483:Base Sequence; D064236:Cartilage Oligomeric Matrix Protein; D024143:Collagen Type VII / Q000235:genetics*; D004247:DNA / Q000235:genetics; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D024143:Collagen Type VII; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human; D004247:DNA